Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001008932 | SCV001168739 | likely pathogenic | not provided | 2018-06-28 | criteria provided, single submitter | clinical testing | The c.375delT variant in the CD40L gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is not observed in large population cohorts (Lek et al., 2016). It causes a frameshift starting with codon Histidine 125, changes this amino acid to a Glutamine residue and creates a premature Stop codon at position 3 of the new reading frame, denoted p.His125GlnfsX3. This variant is predicted to cause loss of normal protein function through protein truncation. In summary, we consider this variant to be likely pathogenic. |